G11778A-F101

**Figure 1\. Pedigree diagram for family G11778A\-F101\.**

![](/media/202606/20260630163112911161.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11778 | m.11778G\>A | G11778A\-F101 | USA | LHON | ND | ND | 1994 | [8023847](https://pubmed.ncbi.nlm.nih.gov/8023847/) |  |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F101 from USA with lhon. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was lhon, bilateral visual loss, visual loss.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11778 | m.11778G\>A | G11778A\-F101 | G11778A\-F101\-I1 | Uninf | F | Y | Y | D | 38 | 33% | 100% | / | 95%(optic nerve); 100%(retina); 100%(sclera); 95%(oculomotor muscle); 97%(heart muscle) | LHON; bilateral visual loss |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F101 | G11778A\-F101\-II1 | Fam | M | N | Y | A | 23 | Heteroplasmic | / | / | / | LHON; visual loss |  |

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